The sry gene and sex determination in mammals

Advances in Developmental Biology (1992)

Volumn 2, Issue C, 1993, Pages 1-35

  Capel, Blanche ^a   Lovell Badge, Robin ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0002837891     PISSN: 15663116     EISSN: None     Source Type: Book Series    
DOI: 10.1016/s1566-3116(08)60025-0     Document Type: Article

References (97)

1. Ashworth, A., Skene, B., Swift, S., and Lo veil-Badge, R. (1990). Zfa is an expressed retroposon derived from an alternative transcript of the Zfx gene. EMBO J. 9:1529-1534.
2. Baker, B. S. (1989). Sex in flies: the splice of life. Nature 340:521-524. (Pubitemid 19201692)
3. Berta, P., Hawkins, J. R., Sinclair, A. H., Taylor, A., Griffiths, B. L., Goodfellow, P. N., and Fellous, M. (1990). Genetic evidence equating SRY and the male sex determining gene. Nature 348:248-250.
4. Biddle, F. G., and Nishioka, Y. (1988). Assays of testis development in the mouse distinguish three classes of domesticus-type Y chromosome. Genomics 30:870-878. (Pubitemid 19059727)
5. Bissel, M. J., Hall, H. G., and Parry, G. (1982). How does the extracellular matrix direct gene expression? J. Theoret. Biol. 99:31-68. (Pubitemid 13209096)
6. Buehr, M., Gu, S., and McLaren, A. (1992). Mesonephric contribution to testis differentiation in the fetal mouse. Development (In Press).
7. Burgoyne, P. S. (1988). Role of mammalian Y chromosome in sex determination. Phil. Trans. R. Soc., Series B, London 322:63-72.
8. Burgoyne, P. S., and Baker, T. G. (1984) Meiotic pairing and gametogenic failure. In: Controlling events in Meiosis, 38th Symposium of the Society for Experimental Biology (Evans, C.W., and Dickinson, H.G., eds.), pp. 349-362. The Company of Biologists, Cambridge.
9. Cattanach, B. M., Pollard, C. E., and Hawkes, S. G. (1971). Sex-reversed mice: XX and XO males. Cytogenetics 70:318-337.
10. Dym, M., Lamsam-Casalotti, S., Jia, M. C., Kleinman, H. K., and Papadopoulos, V. (1991). Basement membrane increases G-protein levels and follicle stimulating hormone responsiveness of Sertoli cell anenylyl cyclase activity. Endocrinology 728:1167-1176.
11. Eicher, E. M. (1988). Autosomal genes involved in mammalian primary sex determination. Phil. Trans. R. Soc, Series B, London 322:109-118.
12. Eicher, E. M., and Washburn, L. L. (1983). Inherited sex reversal in mice: identification of a new primary sex-determining gene. J. of Exp. Zool. 228:297-304.
13. Eicher, E. M., and Washburn, L. L. (1986). Genetic control of primary sex determination in mice. Ann. Rev. of Genet. 20:327-360.
14. Eicher, E. M., Washburn, L. L., Whitney III, J. B., and Morrow, K. E. (1982). Mus poschiavinus Y chromosome in the C57BL/6J murine genome causes sex reversal. Science 277:535-537. (Pubitemid 12099334)
15. Einck, L., and Bustin, M. (1985). The intracellular distribution and function of the high mobility group chromosomal proteins. Exp. Cell Res. 756:295-310. (Pubitemid 15124019)
16. Ferguson, M. W. J., and Joanen, T. (1982). Temperature of egg incubation determines sex in Alligator mississippiensis. Nature 296:850-853. (Pubitemid 12096591)
17. Ferguson-Smith, M. A. (1966). X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet ii:475-476.
18. Ferrari, S., Harley, V. R., Pontiggia, A., Goodfellow, P. N., Lovell-Badge, R., and Bianchi, M. E. (1992). SRY, like HMG1, recognizes sharp angles in DNA. EMBO J. 77:4497-4506.
19. Fisher, E. M. C., Beer-Romero, P., Brown, L. G., Ridley, A., McNeil, J. A., Bentley Lawrence, J., Willard, H. F., Bieber, F. R., and Page, D. C. (1990). Homologous ribosomal protein genes on the human X and Ychromosomes: Escape from X inactivation and possible implications for Turner syndrome. Cell 63:1205-1218. (Pubitemid 120035069)
20. Ford, C. E., Jones, K. W., Polani, P. E., de Almeida, J. C., and Briggs, J. H. (1959). A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet i:711-713.
21. Fredga, K. (1988). Aberrant chromosomal sex-determining mechanisms in mammals, with special reference to species with XY females. Phil. Trans. R. Soc., Series B, London 322:83-95.
22. Giese, K., Amsterdam, A., and Grosschedl, R. (1991). DNA-binding properties of the HMG domain of the lymphoid-specific transcriptional regulator LEF-1. Genes and Dev. 5:2567-2578. (Pubitemid 21905940)
23. Giese, K., Cox, J., and Grosschedl, R. (1992). The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures. Cell 69:1-20.
24. Ginsburg, M., Snow, M., and McLaren, A. (1990). Primordial germ cells in the mouse embryo during gastrulation. Development 110:521-528. (Pubitemid 20330528)
25. Gubbay, J., Collignon, J., Koopman, P., Capel, B., Economou, A., MUnsterberg, A., Vivian, N., Goodfellow, P., and Lovell-Badge, R. (1990a). A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250.
26. Gubbay, J., Koopman, P., Collignon, J., Burgoyne, P., and Lovell-Badge, R. (1990b). Normal structure and expression of Zfy genes in XY female mice mutant in Tdy. Development 109:647-653. (Pubitemid 20228659)
27. Gubbay, J., Vivian, N., Economou, A., Jackson, D., Goodfellow, P. N., and Lovell-Badge, R. (1992a). Inverted repeat structure of the SRY locus in mice. Proc. Natl. Acad, of Sci. USA.
28. Guellaen, G., Casanova, M., Bishop, C., Geldwerth, D., Andre, G., Fellous, M., and Weissenbach, J. (1984). Human XX males with single copy DNA fragments. Nature 307:172-173. (Pubitemid 14132905)
29. Hadley, M. A., Byers, S. W., Suarez-Quian, C. A., Kleinman, H. K., and Dym, M. (1985). Extracellular matrix regulates Sertoli cell differentiation, testicular cord formation, and germ cell development in vitro, J. Cell Biol. 707:1511-1522. (Pubitemid 16234178)
30. Hadley, M. A., Weeks, B. S., Kleinman, H. K., and Dym, M. (1990). Laminin promotes formation of cord-like structures by Sertoli cells in vitro. Dev. Biol. 740:318-327. (Pubitemid 20222470)
31. Harley, V. R., Jackson, D., Hextall, P., Hawkins, J. R., Berkovitz, G. D., Sockanathan, S., Lovell-Badge, R., and Goodfellow, P. N. (1992). DNA binding activity of recombinant SRY from normal males and XY females. Science 255:453-456.
32. Hawkins, J. R., Taylor, A., Berta, P., Levilliers, J., Van Der Auwere, B., and Goodfellow, P. N. (1992). Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Hum. Genet. 88:471-474.
33. Jacobs, P. A., and Strong, J. A. (1959). A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 783:302-303.
34. Jager, R. J., Anvret, M., Hall, K., and Scherer, G. (1990). A human XY female with a frame shift mutation in SRY, a candidate testis determining gene. Nature 348:452-454. (Pubitemid 120015088)
35. Jager, R. J., Pfeiffer, R. A., and Scherer, G. (1991). An aminoacid substitution in SRYleads to conditional XY gonadal dysgenesis. Int. Cong, of Hum. Genet. 8:12-13.
36. Jantzen, H.-M., Admon, A., Bell, S. P., and Tjian, R. (1990). Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. Nature 344:830-836.
37. Jost, A. (1947). Recherches sur la differentiation sex uelle de 1'embryon de lapin. Archives d'Anatomie et Microscopie Morphologie Experimentale 36:271-315.
38. Kanai, Y, Kurohmaru, M., Hayashi, Y, and Nishida, T. (1989). Formation of male and female sex cords in gonadal development of C57B1/6 mouse. Japanese J. Vet. Sci. 57:7-16.
39. Kay, G. E, Ashworth, A., Penny, G. D., Dunlop, M., Swift, S., Brockdorff, N., and Rastan, S. (1991). A candidate spermatogenesis gene on the mouse Y chromosome is homologous to ubiquitin-activating enzyme El. Nature 354:486-489.
40. Kelly, M., Burke, J., Smith, M., Klar, A., and Beach, D. (1988). Four mating-type genes control sexual differentiation in the fission yeast. EMBO J. 7:1537-1547.
41. Kent, M. G., Schoffner, R. N., Buoen, L., and Weber, A. F. (1986). XY sex-reversal syndrome in the domestic horse. Cytogenet. Cell. Genet. 42:8-18. (Pubitemid 16069693)
42. Kiel-Metzger, K., Warren, G., Wilson, G. N., and Erickson, R. P. (1985). Evidence that the human Y chromosome does not contain clustered DNA sequences (Bkm) associated with hetero-gametic sex determination in other vertebrates. New Engl. J. Med. 373:242-245. (Pubitemid 15068640)
43. Koopman, P., Gubbay, J., Collignon, J., and Lovell-Badge, R. (1989). Zfy gene expression patterns are not compatible with a primary role in mouse sex determination. Nature 342:940-942. (Pubitemid 20021344)
44. Koopman, P., MUnsterberg, A., Capel, B., Vivian, N., and Lovell-Badge, R. (1990). Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348:450-452. (Pubitemid 120015087)
45. Koopman, P., Ashworth, A., and Lovell-Badge, R. (1991a). The ZFY gene family in humans and mice. Trends in Genet. 7:132-136. (Pubitemid 121001911)
46. Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P., and Lovell-Badge, R. (1991b). Male development of chromosomally female mice transgenic for Sry. Nature 557:117-121. (Pubitemid 21896542)
47. Levinson, G., Marsh, J. L., Eppler, J. T., and Gutman, G. A. (1985). Cross-hybridizing snake satellite, Drosophila, and mouse DNA sequences may have arisen independently. Mol. Biol. Evol. 2:494-504. (Pubitemid 16234733)
48. Lovell-Badge, R. H., and Robertson, E. (1990). XY female mice resulting from a heritable mutation in the murine primary testis determining gene, Tdy. Development 709:635-646. (Pubitemid 20228658)
49. Mardon, G., Mosher, R., Disteche, C. M., Nishioka, Y, McLaren, A., and Page, D. C. (1989). Duplication, deletion, and polymorphism in the sex-determining region of the mouse Y chromosome. Science 245:78-80. (Pubitemid 19027927)
50. McElreavy, K., Vilain, E., Abbas, N., Costa, J.-M., Souleyreau, N., Kucheria, K., Boucekkine, C., Thibaud, E., Brauner, R., Flamant, F., and Fellous, M. (1992). XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. Proc. Natl. Acad. Sci. USA 59:11016-11020.
51. McLaren (1988) The developmental history of female germ cells in mammals. In: Oxford Reviews of Reproductive Biology, Vol. 10, pp. 163-179. Oxford University Press, Oxford.
52. McLaren, A. (1985) Relating of germ cell sex to gonadal differentiation. In: The Origin and Evolution of Sex (Halvorsen, H. O., and Monroy, A., eds.). pp. 289-300. Alan R. Liss, New York.
53. McLaren, A., and Monk, M. (1982). Fertile females produced by inactivation from X chromosome of sex-reversed mice. Nature 500:446-448. (Pubitemid 13182909)
54. McLaren, A., Simpson, E., Tomonari, K., Chandler, P., and Hogg, H. (1984). Male sexual differentiation in mice lacking H-Y antigen. Nature 572:552-555. (Pubitemid 15182285)
55. McLaren, A., Simpson, E., Epplen, J. T., Studer, R., Koopman, P., Evans, E. P., and Burgoyne, P. S. (1988). Location of the genes controlling H-Y antigen expression and testis determination on the mouse Y chromosome. Proc. Natl. Acad. Sci. USA 85:6442-6445.
56. Merchant-Larios, H., and Taketo, T. (1991). Testicular differentiation in mammals under normal and experimental conditions. J. Electron Microsc. Techn. 79:158-171.
57. Mintz, B., and Russell, E. S. (1957). Gene-induced embryological modifications of primordial germ cells in the mouse. J. Exp. Zool. 134:207-237.
58. Mitchell, M. J., Woods, D. R., Tucker, P. K., Opp, J. S., and Bishop, C. E. (1991). Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1. Nature 554:483-486. (Pubitemid 21896865)
59. Münsterberg, A., and Lovell-Badge, R. (1991). Expression of the mouse anti-mullerian hormone gene suggests a role in both male and female sexual differentiation. Development 775:613-624.
60. Nieuwkoop, P. D., Johnen, A. G., and Albers, B. (1985). The Epigenetic Nature of Early Chordate Development. Cambridge University Press, Cambridge.
61. O, W.-S., Short, R. V, Renfree, M. B., and Shaw, G. (1988). Primary genetic control of somatic sexual differentiation in a mammal. Nature 557:716-717. (Pubitemid 18062237)
62. Oosterwegel, M., van de Wetering, M., Dooijes, D., Klomp, L., Winoto, A., Georgopoulos, K., Meijlink, F., and Clevers, H. (1991). Cloning of murine TCF-1, a T cell-specific transcription factor interacting with functional motifs in the CD3-e and T cell receptor enhancers. J. Exp. Med. 775:1133-1142.
63. Page, D. C. (1986) Sex reversal: deletion mapping the male-determining function of the human Y chromosome. In: Molecular Biology of Homo Sapiens. Cold Spring Harbor Symposium on Quantitative Biology, Vol. 51, pp. 229-235. Cold Spring Harbor, New York. (Pubitemid 17076707)
64. Page, D. C., Brown, L. G., and de la Chapelle, A. (1987). Exchange of terminal portion of X-Y-chromosomal short arm in human XX males. Nature 528:437-440. (Pubitemid 17097777)
65. Page, D. C., Disteche, C. M., Simpson, E. M., De la Chapelle, A., Andersson, M., Alitalo, X, Brown, L. G., and Green, P. (1990). Chromosomal localization of ZFX - a human gene that escapes X inactivation- and its murine homologs. Genomics 7:37-46. (Pubitemid 20267317)
66. Palmer, M. S., Sinclair, A. R, Berta, P., Ellis, N. A., Goodfellow, P. N., Abbas, N. E., and Fellous, M. (1989). Genetic evidence that Zfy is not the testis-determining factor. Nature 542:937-939. (Pubitemid 20021343)
67. Palmer, S. J., and Burgoyne, P. S. (1991a). In situ analysis of fetal, prepuberal and adult XX-XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY. Development 772:265-268.
68. pos mice. Development 775:709-714.
69. Parisi, M. A., and Clayton, D. A. (1991). Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science 252:965-969. (Pubitemid 21917015)
70. Pritchard, C. A., Goodfellow, P. A., and Goodfellow, P. N. (1987). Mapping the limits of the human pseudoautosomal region and a candidate sequence for the male-determining gene. Nature 528:273-275. (Pubitemid 17108280)
71. Roberts, C., Weith, A., Passage, E., Michot, J. L., Mattei, M. G., and Bishop, C. E. (1988). Molecular and cytogenetic evidence for the location of Tdy and Hya on the mouse Y chromosome short arm. Proc. Natl. Acad. Sci. USA 85:6446-6449.
72. Sadler, T. W. (1985) Urogenital System. In: Langman's Medical Embryology, pp. 247-254. Williams & Wilkins, Baltimore.
73. Satoh, M. (1985). The histogenesis of the gonad in rat embryos. J. Anat. 745:17-37. (Pubitemid 16177326)
74. Scherer, G., Schempp, W., Baccichetti, C., Lenzini, E., Bricarelli, F. D., Carbone, L. D. L., and Wolf, U. (1989). Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum. Genet. 87:291-294. (Pubitemid 19068281)
75. Simpson, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., and Page, D. C. (1987). Separation of the genetic loci for the H-Y antigen and for testis determination on the human Y chromosome. Nature 526:876-878. (Pubitemid 17065299)
76. Sinclair, A. H., Foster, J. W., Spencer, J. A., Page, D. C., Palmer, M., Goodfellow, P. N., and Graves, J. A. M. (1988). Sequences homologous to Zfy, a candidate human sex-determining gene, are autosomal in marsupials. Nature 556:780-783.
77. Sinclair, A. H., Berta, P., Palmer, M. S., Hawkins, J. R., Griffiths, B. L., Smith, M. J., Foster, J. W., Frischauf, A.-M., Lovell-Badge, R., and Goodfellow, P. N. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
78. Singh, L., Purdom, I. F., and Jones, K. W. (1980). Sex chromosome associated satellite DNA: evolution and conservation. Chromosoma 79:137-157. (Pubitemid 10073341)
79. Singh, L., Phillips, C., and Jones, K. W. (1984). The conserved nucleotide sequences of Bkm, which define Sxr in the mouse are transcribed. Cell 56:111-120. (Pubitemid 14155376)
80. Skinner, M. K., Tung, P. S., and Fritz, I. B. (1985). Cooperativity between Sertoli cells and testicular peritubular cells in the production and deposition of extracellular matrix components. J. Cell Biol. 700:1941-1947. (Pubitemid 15042090)
81. Skinner, M. K., Stallard, B., Anthony, C. T., and Griswold, M. D. (1989). Cellular localization of fibronectin gene expression in the seminiferous tubule. Mol. Cell. Endocrin. 66:45-52. (Pubitemid 19217950)
82. Smith, C., and Mackay, S. (1991). Morphological development and fate of the mouse mesonephros. J. Anat. 774:171-184.
83. Smith, C. P. W., Williams, P. L., and Treadgold, S. (1969) The urogenital system. In: Basic Human Embryology, pp. 92-97. Pitman Publishers, London.
84. Sugimoto, A., lino, Y, Maeda, T., Watanabe, Y, and Yamamoto, M. (1991). Schizosaccharomyces pombe stell+ encodes a transcription factor with an HMG motif that is a critical regulator of sexual development. Genes Dev. 5:1990-1999. (Pubitemid 21905892)
85. b mice suggests that the spermatogenesis gene (Spy) acts during the differentiation of the A spermatogonia. Development 707:373-380. (Pubitemid 19283410)
86. Taketo, T., and Koide, S. S. (1981). In vitro development of testis and ovary from indifferent fetal mouse gonads. Dev. Biol. 84:61-66. (Pubitemid 11092403)
87. Travis, A., Amsterdam, A., Belanger, C., and Grosschedl, R. (1991). LEF-1, a gene encoding a ly mphoid-specific protein with an HMG domain, regulates T-cell receptor alpha enhancer function. Genes Dev. 5:880-894. (Pubitemid 21906004)
88. Tucker, P. K., Lee, B. K., Lundrigan, B. L., and Eicher, E. M. (1992). Geographic origin of the Y chromosomes in "old" inbred strains of mice. Mamm. Genome 3(5):254-261.
89. Tung, P. S., and Fritz, I. B. (1980). Interactions of Sertoli cells with myoid cells in vitro. Biol. Repro. 23:207-217. (Pubitemid 10015339)
90. Tung, P. S., and Fritz, I. B. (1986). Extracellular matrix components and testicular peritubular cells influence the rate and pattern of Sertoli cell migration in vitro. Dev. Biol. 773:119-134. (Pubitemid 16047322)
91. Tung, P. S., and Fritz, I. B. (1987). Morphogenetic restructuring and formation of basement membranes by Sertoli cells and testis peritubular cells in co-culture: Inhibition of the morphogenetic cascade by cyclic AMP derivatives and by blocking direct cell contact. Dev. Biol. 720:139-153. (Pubitemid 17027104)
92. Vergnaud, G., Page, D. C., Simmler, M. C., Brown, L., Rouyer, F., Noel, B., Botstein, D., de la Chapelle, A., and Weissenbach, J. (1986). A deletion map of the human Y chromosome based on DNA hybridisation. Amer. J. Hum. Genet. 38:109-124. (Pubitemid 16067999)
93. Wachtel, S. S., Ohno, S., Koo, G. C., and Boyse, E. A. (1975). Possible role for H-Y antigen in the primary determination of sex. Nature 257:235-236.
94. Wartenberg, H. (1982). Development of the early human ovary and the role of the mesonephros in the differentiation of the cortex. Anat. Embryol. 765:253-280. (Pubitemid 13234753)
95. Waterman, M. L., Fischer, W. H., and Jones, K. A. (1991). A thymus-specific member of the HMG protein family regulates the human T cell receptor C alpha enhancer. Genes Dev. 5:656-669. (Pubitemid 21905985)
96. Welshons, W. J., and Russell, L. B. (1959). The Y chromosome as the bearer of male determining factors in the mouse. Proc. Natl. Acad. Sci. USA 45:560-566.
97. van de Wetering, M., Oosterwegel, M., Dooijes, D., and Clevers, H. (1991). Identification and cloning of TCF-1, a T lymphocyte-specific transcription factor containing a sequence-specific HMG box. Eur. Mol. Biol. Org. J. 70:123-132. (Pubitemid 21905274)